Association of three single nucleotide polymorphisms of the E-cadherin gene with endometriosis in a Chinese population

Shan Kang, Kang Shan, Xiaowei Ma, Ma Xiao-Wei, Na Wang, Wang Na, Zhang Xiu-Feng, Xiufeng Zhang, Wen Deng-Gui, Wen Denggui, Guo Wei, Wei Guo, Zhang Zheng-Mao, Zhengmao Zhang, Yan Li, Li Yan
Reproduction (Cambridge, England) · 2007 · vol. 134(2) , pp. 373–378 · doi:10.1530/rep-07-0104 · PMID:17660246 · W2153483956
article OA: bronze CC0 ⤵ 8 in-corpus citations
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The E-cadherin 3'-UTR C --> T polymorphism and the -160 A/-347 GA haplotype were associated with increased endometriosis risk in a Chinese population.

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Abstract

Endometriosis, one of the most frequent diseases in gynecology, is a benign but invasive and metastatic disease. The altered expression of E-cadherin may play an important role in developing endometriosis. In this paper, we discuss the association of three single nucleotide polymorphisms (SNPs) on the E-cadherin gene and risk of endometriosis. We examined the genotype frequency of three polymorphisms in 152 endometriosis patients and 189 control women. There was a significant difference in the frequency of the E-cadherin 3'-UTR C --> T genotypes between endometriosis and controls (P = 0.01). The frequency of the C allele in patients (71.1%) was significantly higher than in the controls (63.8%; P = 0.04). When compared with the T/T + T/C genotypes, the C/C genotype had a significantly increased susceptibility to endometriosis, with an adjusted odds ratio of 1.79 (95% confidence interval = 1.17-2.76). No significant difference was found between endometriosis and control women on two polymorphisms (-160 C --> A, -347 G --> GA) at the gene promoter region of E-cadherin. The -160 C --> A and -347 G --> GA polymorphisms displayed linkage disequilibrium (D' = 0.999). The -160 A/-347 GA haplotype was only detected in endometriosis patients (2%). These data show a relation between the E-cadherin 3'-UTR C --> T polymorphism, the -160 A/-347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Cadherins Endometriosis Polymorphism, Single Nucleotide Promoter Regions, Genetic Adult Asian People Cadherins Case-Control Studies China Confidence Intervals Endometriosis Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Haplotypes Humans Linkage Disequilibrium Middle Aged

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